Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2013 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs3021094
rs3021094
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs3093953
rs3093953
1 1.000 0.200 6 31506911 intron variant T/G snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs2517411
rs2517411
1 1.000 0.200 6 30992490 downstream gene variant T/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs383632
rs383632
1 1.000 0.200 8 31948532 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs924080
rs924080
3 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 0.840 0.800 5 2010 2019
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.830 1.000 4 2010 2015
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2012 2017
dbSNP: rs2617170
rs2617170
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 1996 2013
dbSNP: rs9266409
rs9266409
5 0.925 0.200 6 31368791 intron variant T/C snv 0.22 0.700 1.000 2 2012 2013
dbSNP: rs10236188
rs10236188
1 1.000 0.200 7 150548168 intergenic variant T/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs10256482
rs10256482
1 1.000 0.200 7 150653887 intergenic variant T/C snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs112130712
rs112130712
1 1.000 0.200 18 20967783 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1462891
rs1462891
1 1.000 0.200 8 31973417 intron variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs2096525
rs2096525
6 0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2903908
rs2903908
2 0.925 0.200 20 46065308 intron variant T/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3024498
rs3024498
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2013 2013
dbSNP: rs4936742
rs4936742
2 0.925 0.200 11 122770378 intron variant T/C snv 0.64 0.010 1.000 1 2019 2019